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Hereditary ovalocytosis

  • Definition
    • Hereditary ovalocytosis is a rare condition passed down through families (inherited). The blood cells are oval-shaped instead of round. It is a form of hereditary elliptocytosis.

  • Alternative Names
    • Ovalocytosis - hereditary

  • Causes
    • Ovalocytosis is mainly found in Southeast Asian populations.

  • Symptoms
    • Newborn infants with ovalocytosis may have anemia and jaundice. Adults most often do not show symptoms.

  • Exams and Tests
    • An exam by your health care provider may show an enlarged spleen.

      This condition is diagnosed by looking at the shape of blood cells under a microscope. The following tests may also be done:

      • Complete blood count (CBC) to check for anemia or red blood cell destruction
      • Blood smear to determine cell shape
      • Bilirubin level (may be high)
      • Lactate dehydrogenase level (may be high)
      • Ultrasound of the abdomen (may show gallstones)
  • Treatment
    • In severe cases, the disease may be treated by removal of the spleen (splenectomy).

  • Possible Complications
    • The condition may be associated with gallstones or kidney problems.

  • References
    • Gallagher PG. Hemolytic anemias. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 161.

      Segel GB. Hereditary elliptocyctosis. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 459.